Variant report

Variant	nsv1030658
Chromosome Location	chr6:87363024-87411106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86352318..86354176-chr6:87391935..87394056,2	K562	blood:
2	chr6:87317696..87319542-chr6:87392510..87394797,2	K562	blood:

Variant related genes	Relation type
ENSG00000135316	chromatin interactions

Extended variants
information (count: 1113 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549518972	chr6:87368430-87368431	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565382002	chr6:87368452-87368453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550950325	chr6:87368465-87368466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186622700	chr6:87368489-87368490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191422511	chr6:87368496-87368497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185052211	chr6:87368500-87368501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546389781	chr6:87368557-87368558	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187887550	chr6:87368568-87368569	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs573336224	chr6:87368572-87368573	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116094830	chr6:87368576-87368577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs149480560	chr6:87368589-87368590	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs143890909	chr6:87368590-87368591	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12194827	chr6:87368616-87368617	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs148611448	chr6:87368629-87368630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73487858	chr6:87368647-87368648	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552387517	chr6:87368683-87368684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371395230	chr6:87368698-87368699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534751631	chr6:87368721-87368722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546306477	chr6:87368743-87368744	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114831527	chr6:87368750-87368751	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs535085083	chr6:87368778-87368779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185025690	chr6:87368788-87368789	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577983248	chr6:87374006-87374007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs182915341	chr6:87374018-87374019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113367907	chr6:87374040-87374041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572762883	chr6:87374041-87374042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376827587	chr6:87374068-87374069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139938723	chr6:87374092-87374093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561919225	chr6:87374130-87374131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs59983498	chr6:87374147-87374148	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs61132326	chr6:87374161-87374162	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188189721	chr6:87374163-87374164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532976788	chr6:87374177-87374178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs193154094	chr6:87374179-87374180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560776250	chr6:87374195-87374196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561244468	chr6:87374202-87374203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114603591	chr6:87374208-87374209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549357772	chr6:87374225-87374226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144768179	chr6:87374233-87374234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs148543053	chr6:87374250-87374251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184074272	chr6:87374262-87374263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs188998215	chr6:87374281-87374282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs116530831	chr6:87374296-87374297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369305339	chr6:87374298-87374299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145430090	chr6:87374327-87374328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192439351	chr6:87374336-87374337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs28773779	chr6:87374339-87374340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555310730	chr6:87374342-87374343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs2147761	chr6:87374349-87374350	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544050899	chr6:87374353-87374354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	19490664	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87368400-87368800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87374000-87374600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:87381000-87386600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:87381600-87382400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:87386600-87387600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:87387600-87388200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:87388000-87389800	Enhancers	K562	blood
8	chr6:87388200-87390600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:87389800-87391400	Weak transcription	K562	blood
10	chr6:87390600-87391600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:87391400-87392000	Enhancers	K562	blood
12	chr6:87392000-87393200	Flanking Active TSS	K562	blood
13	chr6:87392200-87393600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:87393200-87393600	Enhancers	K562	blood
15	chr6:87393600-87394000	Flanking Active TSS	K562	blood
16	chr6:87394000-87394600	Enhancers	K562	blood
17	chr6:87394600-87394800	Flanking Active TSS	K562	blood
18	chr6:87394600-87396000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr6:87394800-87396600	Enhancers	K562	blood
20	chr6:87396000-87396400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:87398600-87399000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:87405800-87406000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:87406000-87410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:87409600-87410600	Enhancers	K562	blood
25	chr6:87410200-87412400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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